{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 20,
          "referenceAllele": "P",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NP_055440.1:p.Pro20Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117451",
          "hgvs": "NM_014625.4:c.59C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20404[alleleid]",
        "alleleId": 20404,
        "preferredName": "NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5365",
        "RCV": [
          "RCV000005696",
          "RCV000588524",
          "RCV001276841",
          "RCV002293977",
          "RCV003150926",
          "RCV003407281",
          "RCV003914811"
        ],
        "variationId": 5365
      }
    ]
  },
  "type": "amino-acid"
}